NM_001288973.2:c.2215A>G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001288973.2(ADAM12):c.2215A>G(p.Lys739Glu) variant causes a missense change. The variant allele was found at a frequency of 0.0000248 in 1,613,960 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001288973.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADAM12 | NM_001288973.2 | c.2215A>G | p.Lys739Glu | missense_variant | Exon 19 of 23 | ENST00000448723.2 | NP_001275902.1 | |
ADAM12 | NM_003474.6 | c.2224A>G | p.Lys742Glu | missense_variant | Exon 19 of 23 | NP_003465.3 | ||
ADAM12 | XM_017016706.2 | c.1057A>G | p.Lys353Glu | missense_variant | Exon 9 of 13 | XP_016872195.1 | ||
ADAM12 | XM_024448210.1 | c.886A>G | p.Lys296Glu | missense_variant | Exon 8 of 12 | XP_024303978.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADAM12 | ENST00000448723.2 | c.2215A>G | p.Lys739Glu | missense_variant | Exon 19 of 23 | 5 | NM_001288973.2 | ENSP00000391268.2 | ||
ADAM12 | ENST00000368679.8 | c.2224A>G | p.Lys742Glu | missense_variant | Exon 19 of 23 | 1 | ENSP00000357668.4 |
Frequencies
GnomAD3 genomes AF: 0.000191 AC: 29AN: 152144Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000477 AC: 12AN: 251486Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135916
GnomAD4 exome AF: 0.00000752 AC: 11AN: 1461816Hom.: 0 Cov.: 32 AF XY: 0.00000413 AC XY: 3AN XY: 727212
GnomAD4 genome AF: 0.000191 AC: 29AN: 152144Hom.: 0 Cov.: 32 AF XY: 0.000135 AC XY: 10AN XY: 74322
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2224A>G (p.K742E) alteration is located in exon 19 (coding exon 19) of the ADAM12 gene. This alteration results from a A to G substitution at nucleotide position 2224, causing the lysine (K) at amino acid position 742 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at